Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Abstract
OBJECTIVE: In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women. MATERIAL AND METHODS: We studied 190 NC-CAH women (161 probands + 29 first degree relatives). Only 20 probands had consulted for infertility (12%), either alone or associated with hirsutism or menstrual cycle disorders. The diagnosis was established on post-ACTH 17-hydroxyprogesterone 10 ng/ml or greater and further characterized by CYP21A2 gene analysis. RESULTS: Ninety-five of the 190 women wanted pregnancy (aged 26.7 +/- 8.9 yr); 187 pregnancies occurred in 85 women, which resulted in 141 births in 82 of them. Ninety-nine pregnancies (52.9%) occurred before the diagnosis of NC-CAH (96 spontaneously and three with ovulation inducers) whereas 98 occurred after diagnosis (11 spontaneously and 77 with hydrocortisone treatment); 83% of pregnancies were obtained within 1 yr. The rate of miscarriages was 6.5% for pregnancies obtained with glucocorticoid treatment vs. 26.3% without. Two of the 141 infants (1.5%) were born with classical CAH. CONCLUSION: Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.
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In a Finnish study of 29 young men with classic CAH a child rate of 0.07 children per adult male was reported, which was significantly lower than the 0.34 in the entire Finnish male population with a similar age distribution.
“In a Finnish study of 29 young men with classic CAH a child rate of 0.07 children per adult male was reported, which was significantly lower than the 0.34 in the entire Finnish male population with a similar age distribution (647).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [647]
The Patients and Discussion sections describe fertility in 190 women with nonclassical CAH, including 29 female relatives. Searches for the Finnish study, 29 young men, and the 0.07-versus-0.34 child-rate comparison found no passage addressing those figures or that male population; the paper's discussion of classical CAH concerns women. (LLM, conf=0.76)
Experimental — accuracy not yet measuredA 17OHP level of less than 200 ng/dL (6 nmol/L) usually excludes nonclassic CAH if measured during the follicular phase of a reproductive-age woman.
“A level of less than 200 ng/dL (6 nmol/L) usually excludes nonclassic CAH if measured during the follicular phase of a reproductive-age woman.64”
From Congenital adrenal hyperplasia (2017) · cites this paper as [64]
In women with NCCAH, the majority of pregnancies occurred before the mother was diagnosed with NCCAH.
“Two retrospective studies of pregnancies among women with NCCAH found that the majority of pregnancies occurred prior to the mother's diagnosis of NCCAH (234, 235).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [235]
In NCCAH pregnancies, glucocorticoid treatment was given to induce fertility in 23% and 42% of cases in two studies.
“GC treatment was given to induce fertility in 23% (234) and 42% (235) of cases.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [235]
In two retrospective analyses, the risk of classic CAH in children born to women with NCCAH was higher, at 1.5% to 2.5%.
“However, in two retrospective analyses of children born to women with NCCAH, the risk was higher, at 1.5% to 2.5% (234, 235).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [235]
Two studies reported elevated miscarriage rates of about 25% in NCCAH women not receiving glucocorticoid and 6% in those exposed to glucocorticoid.
“Both studies reported elevated miscarriage rates of ;25% in those not receiving GC and 6% in those exposed to GC.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [235]
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References 45 · Cited by 204
- Authors
- Bidet, M., Bellanné-Chantelot, C., Galand-Portier, M.-B., Golmard, J.-L., Tardy, V., Morel, Y., Clauin, S., Coussieu, C., Boudou, P., Mowzowicz, I., Bachelot, A., Touraine, P., & Kuttenn, F.
- Affiliations
- Assistance Publique – Hôpitaux de Paris (FR)
- Genetics (C.B.-C., S.C.), Assistance Publique-Hôpitaux de Paris Pitié-Salpétrière, 75013 Paris, France
- Departments of Reproductive Endocrinology (M.B., M.-B.G.-P., I.M., A.B., P.T., F.K.), Assistance Publique-Hôpitaux de Paris Pitié-Salpétrière, 75013 Paris, France
- Endocrine and Molecular Biochemistry, Biology, and Pathology East Center (V.T., Y.M.), 69677 Bron, France
- Inserm (FR)
- Corresponding author
- Kuttenn, F.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2010-03-01
- Volume
- 95
- Issue
- 3
- Pages
- 1182-1190
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2035894113
- Cited by
- 204
- References
- 45
- Citations by year
- 2026: 9 · 2025: 6 · 2024: 16 · 2023: 17 · 2022: 20 · 2021: 12 · 2020: 13 · 2019: 14 · 2018: 10 · 2017: 12 · 2016: 11 · 2015: 11 · 2014: 11 · 2013: 17 · 2012: 15
- FWCI
- 5.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, female fertility, subfertility, miscarriage, glucocorticoid therapy, cortisol, CYP21A2 mutations, heterozygous carriers, genetic counseling, pregnancy outcomes, hirsutism, menstrual disorders
- MeSH terms
- Abortion, Spontaneous, Adrenal Hyperplasia, Congenital, Adult, Female, Glucocorticoids, Humans, Infertility, Female, Mutation, Pedigree, Pregnancy, Pregnancy Outcome, Steroid 21-Hydroxylase, Chi-Square Distribution
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